title: Detection of acquired hemoglobinopathy in children with hematological malignancies at disease onset: results form a national referral centre.
abstract: Abnormal hemoglobin synthesis is usually inherited but may also arise as a secondary manifestation of a hematological neoplasia. The objective of this study is to identify the presence of acquired hemoglobinopathy in children diagnosed with hematological malignancies and compare these against healthy controls. Prospective matched case-control study held from 2010 to 2012. For each patient with hematological malignancy two healthy controls matched on gender, age and race were recruited. Patients with other co-morbidities were excluded. All samples underwent supravital staining and high-performance liquid chromatography (HPLC) electrophoresis. Following identification of abnormal results, molecular genetic testing for all α- and β-thalassemia mutations prevalent in the Greek population was performed. Other causes of anemia were ruled out based on specific testing. A total of 44 (32 males) patients with a mean age of 7.1 years were enrolled in the study. Hematological disorders included acute lymphocytic leukemia (24), acute myeloid leukemia (8), non-Hodgkin lymphoma (8), Hodgkin disease (3), and Langerhans cell histiocytosis (1). Following exclusion of congenital hemoglobinopathies, atypical HPLC electrophoretic findings persisted in 18.1 % of the patient group, compared to 0 % in the control group (p < 0.001). The patient group showed marked microcytic anemia (p < 0.01) and detection of small inclusions (p = 0.034) on supravital staining. Comparison of the HPLC findings between the groups demonstrated significantly lower percentages of HbA (p = 0.02), normal HbA2 and higher percentage of fast moving Hb bands (p = 0.04) in the patient group. Interestingly, the majority of these patients belonged to the high-risk group. Acquired hemoglobinopathy is recognized in adult patients. This is a novel study describing evidence of abnormal erythropoiesis in children with hematological malignancies and in particular those classified as high-risk cancer patients according to international criteria.
authors.affiliation: Second Department of Pediatrics, "P. & A. Kyriakou" Children's Hospital, Medical School, Athens University, Athens, Greece, dmaritsi@yahoo.co.uk.
authors.forename: Despoina N
authors.initials: DN
authors.lastname: Maritsi
authors.forename: Helen V
authors.initials: HV
authors.lastname: Kosmidis
authors.forename: Varvara
authors.initials: V
authors.lastname: Douna
authors.forename: Joanne
authors.initials: J
authors.lastname: Traeger-Synodinos
authors.forename: Maria N
authors.initials: MN
authors.lastname: Tsolia
authors.forename: Lydia
authors.initials: L
authors.lastname: Kossiva
mesh_terms: D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004909:Erythrocyte Indices; D005260:Female; D006115:Greece; D019337:Hematologic Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology*; D006801:Humans; D008297:Male; D015995:Prevalence; D011446:Prospective Studies